Incidental Mutation 'R4714:Frmpd1'
ID 353426
Institutional Source Beutler Lab
Gene Symbol Frmpd1
Ensembl Gene ENSMUSG00000035615
Gene Name FERM and PDZ domain containing 1
Synonyms
MMRRC Submission 041956-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4714 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 45184875-45285936 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45284785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 1202 (Q1202R)
Ref Sequence ENSEMBL: ENSMUSP00000103434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044773] [ENSMUST00000107804]
AlphaFold A2AKB4
Predicted Effect probably benign
Transcript: ENSMUST00000044773
AA Change: Q1202R

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000047232
Gene: ENSMUSG00000035615
AA Change: Q1202R

DomainStartEndE-ValueType
PDZ 67 135 5.72e-10 SMART
B41 177 401 4.85e-30 SMART
low complexity region 523 537 N/A INTRINSIC
low complexity region 578 597 N/A INTRINSIC
PDB:4G2V|B 901 938 2e-15 PDB
low complexity region 962 980 N/A INTRINSIC
low complexity region 1019 1030 N/A INTRINSIC
low complexity region 1115 1130 N/A INTRINSIC
Blast:B41 1264 1488 3e-44 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000107804
AA Change: Q1202R

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103434
Gene: ENSMUSG00000035615
AA Change: Q1202R

DomainStartEndE-ValueType
PDZ 67 135 5.72e-10 SMART
B41 177 401 4.85e-30 SMART
low complexity region 523 537 N/A INTRINSIC
low complexity region 578 597 N/A INTRINSIC
PDB:4G2V|B 901 938 2e-15 PDB
low complexity region 962 980 N/A INTRINSIC
low complexity region 1019 1030 N/A INTRINSIC
low complexity region 1115 1130 N/A INTRINSIC
Blast:B41 1264 1488 3e-44 BLAST
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4930486L24Rik A G 13: 60,992,132 (GRCm39) V298A probably damaging Het
Abca12 A G 1: 71,360,609 (GRCm39) V534A probably benign Het
Abcb4 A G 5: 8,980,906 (GRCm39) probably null Het
Adam30 A T 3: 98,070,170 (GRCm39) S668C probably damaging Het
Ap1g1 T A 8: 110,556,252 (GRCm39) V196D probably damaging Het
Atp11b G A 3: 35,888,543 (GRCm39) V738I probably benign Het
Cast C T 13: 74,946,834 (GRCm39) V27I probably damaging Het
Cfap54 A G 10: 92,651,780 (GRCm39) I3090T probably benign Het
Cgn C A 3: 94,686,748 (GRCm39) G185W probably damaging Het
Champ1 T C 8: 13,928,063 (GRCm39) Y74H probably damaging Het
Cpm T C 10: 117,511,890 (GRCm39) I278T probably damaging Het
Dcaf15 T C 8: 84,828,845 (GRCm39) T141A probably benign Het
Dcun1d1 C T 3: 35,949,819 (GRCm39) V244M probably damaging Het
Defb8 A G 8: 19,497,575 (GRCm39) L12P probably damaging Het
Dlg1 A T 16: 31,609,079 (GRCm39) I225F probably damaging Het
Dync2h1 G T 9: 7,118,932 (GRCm39) H2178N possibly damaging Het
Enam A G 5: 88,651,395 (GRCm39) E893G probably damaging Het
Flt4 T A 11: 49,518,034 (GRCm39) L358Q probably damaging Het
Ghr T A 15: 3,349,879 (GRCm39) D433V possibly damaging Het
Grm7 G A 6: 111,057,383 (GRCm39) D328N possibly damaging Het
Haus4 T C 14: 54,779,577 (GRCm39) D349G probably benign Het
Helz T C 11: 107,517,542 (GRCm39) probably null Het
Hif3a A G 7: 16,790,196 (GRCm39) L69P probably damaging Het
Ifit1 A G 19: 34,625,563 (GRCm39) E233G probably damaging Het
Kcnc2 T C 10: 112,291,733 (GRCm39) F307S possibly damaging Het
Lrp1b A T 2: 41,000,771 (GRCm39) V2151E possibly damaging Het
Lrp5 T C 19: 3,709,454 (GRCm39) N92S probably damaging Het
Metrnl C T 11: 121,606,839 (GRCm39) A216V probably damaging Het
Msh2 A G 17: 88,026,217 (GRCm39) T732A probably damaging Het
Necab2 T C 8: 120,194,334 (GRCm39) L270P probably damaging Het
Noc3l T C 19: 38,804,157 (GRCm39) K74E probably benign Het
Oas2 A T 5: 120,871,537 (GRCm39) L702Q probably damaging Het
Or1j1 A T 2: 36,703,047 (GRCm39) I19N probably benign Het
Or2n1d A C 17: 38,646,731 (GRCm39) I228L possibly damaging Het
Or4k1 A G 14: 50,377,436 (GRCm39) I220T possibly damaging Het
Or4k6 C A 14: 50,475,824 (GRCm39) V173L possibly damaging Het
Or6c216 A T 10: 129,678,814 (GRCm39) N32K probably damaging Het
Pax6 A G 2: 105,525,745 (GRCm39) H376R possibly damaging Het
Pnkd C T 1: 74,390,941 (GRCm39) R376C probably damaging Het
Pnpla8 T C 12: 44,342,696 (GRCm39) F484S probably damaging Het
Psme4 T A 11: 30,782,573 (GRCm39) H909Q probably benign Het
Rasip1 CGG CGGG 7: 45,281,820 (GRCm39) probably null Het
Rbm47 A T 5: 66,182,395 (GRCm39) Y413N probably damaging Het
Rnf123 A G 9: 107,929,638 (GRCm39) probably null Het
Ruvbl1 T A 6: 88,461,412 (GRCm39) M259K possibly damaging Het
Sohlh2 A G 3: 55,097,950 (GRCm39) H134R probably benign Het
Sorbs2 A G 8: 46,248,330 (GRCm39) D447G possibly damaging Het
Tank C T 2: 61,480,573 (GRCm39) P370S probably benign Het
Tenm4 A G 7: 96,544,131 (GRCm39) E2049G probably damaging Het
Tnik A G 3: 28,648,226 (GRCm39) H426R possibly damaging Het
Trpm6 C A 19: 18,831,564 (GRCm39) S1476R possibly damaging Het
Trpm7 G A 2: 126,682,703 (GRCm39) Q389* probably null Het
Ttc28 G A 5: 111,433,095 (GRCm39) R2043Q possibly damaging Het
Tymp A G 15: 89,260,510 (GRCm39) S103P probably damaging Het
Usp40 C T 1: 87,894,901 (GRCm39) probably null Het
Vmn1r202 T A 13: 22,685,977 (GRCm39) N147Y probably damaging Het
Vmn2r89 T C 14: 51,689,688 (GRCm39) S64P probably damaging Het
Vps13a A T 19: 16,727,220 (GRCm39) D229E probably benign Het
Vps52 A G 17: 34,180,153 (GRCm39) I354V probably benign Het
Zbtb8os T C 4: 129,235,557 (GRCm39) F90L probably damaging Het
Zfp36l1 T C 12: 80,157,270 (GRCm39) D37G possibly damaging Het
Zfp467 A G 6: 48,404,751 (GRCm39) S109P unknown Het
Zzef1 T A 11: 72,728,038 (GRCm39) C535S probably damaging Het
Other mutations in Frmpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Frmpd1 APN 4 45,279,456 (GRCm39) missense possibly damaging 0.61
IGL01678:Frmpd1 APN 4 45,243,717 (GRCm39) missense probably damaging 1.00
IGL01815:Frmpd1 APN 4 45,284,239 (GRCm39) missense probably benign
IGL02305:Frmpd1 APN 4 45,249,209 (GRCm39) missense probably damaging 1.00
IGL02347:Frmpd1 APN 4 45,270,023 (GRCm39) splice site probably null
IGL02586:Frmpd1 APN 4 45,285,160 (GRCm39) missense probably damaging 1.00
IGL02704:Frmpd1 APN 4 45,285,082 (GRCm39) missense possibly damaging 0.83
IGL02942:Frmpd1 APN 4 45,285,493 (GRCm39) missense probably damaging 0.99
IGL03353:Frmpd1 APN 4 45,261,926 (GRCm39) missense probably damaging 1.00
IGL03355:Frmpd1 APN 4 45,279,140 (GRCm39) missense probably damaging 1.00
IGL03401:Frmpd1 APN 4 45,284,383 (GRCm39) missense probably benign 0.28
IGL03047:Frmpd1 UTSW 4 45,283,993 (GRCm39) missense probably damaging 1.00
R0094:Frmpd1 UTSW 4 45,284,899 (GRCm39) nonsense probably null
R0103:Frmpd1 UTSW 4 45,229,884 (GRCm39) missense probably damaging 0.99
R0103:Frmpd1 UTSW 4 45,229,884 (GRCm39) missense probably damaging 0.99
R0109:Frmpd1 UTSW 4 45,279,340 (GRCm39) missense probably benign 0.03
R0109:Frmpd1 UTSW 4 45,279,340 (GRCm39) missense probably benign 0.03
R0375:Frmpd1 UTSW 4 45,284,196 (GRCm39) missense probably benign 0.00
R0508:Frmpd1 UTSW 4 45,284,938 (GRCm39) missense unknown
R0524:Frmpd1 UTSW 4 45,283,774 (GRCm39) missense probably benign 0.00
R0524:Frmpd1 UTSW 4 45,256,902 (GRCm39) missense probably damaging 1.00
R0625:Frmpd1 UTSW 4 45,284,055 (GRCm39) missense probably benign
R0825:Frmpd1 UTSW 4 45,285,394 (GRCm39) missense possibly damaging 0.93
R0926:Frmpd1 UTSW 4 45,268,497 (GRCm39) missense probably damaging 1.00
R0975:Frmpd1 UTSW 4 45,279,000 (GRCm39) missense probably benign 0.01
R1465:Frmpd1 UTSW 4 45,273,197 (GRCm39) missense probably damaging 1.00
R1465:Frmpd1 UTSW 4 45,273,197 (GRCm39) missense probably damaging 1.00
R1573:Frmpd1 UTSW 4 45,283,932 (GRCm39) missense probably benign 0.01
R1938:Frmpd1 UTSW 4 45,283,711 (GRCm39) missense probably damaging 1.00
R2334:Frmpd1 UTSW 4 45,285,408 (GRCm39) missense probably damaging 0.97
R2413:Frmpd1 UTSW 4 45,278,969 (GRCm39) missense probably benign 0.02
R2760:Frmpd1 UTSW 4 45,244,667 (GRCm39) missense possibly damaging 0.77
R3856:Frmpd1 UTSW 4 45,283,698 (GRCm39) missense probably damaging 1.00
R3876:Frmpd1 UTSW 4 45,284,093 (GRCm39) missense probably benign 0.01
R4080:Frmpd1 UTSW 4 45,284,382 (GRCm39) missense probably benign
R4597:Frmpd1 UTSW 4 45,274,441 (GRCm39) missense probably benign 0.12
R4779:Frmpd1 UTSW 4 45,229,865 (GRCm39) missense probably damaging 1.00
R4957:Frmpd1 UTSW 4 45,273,099 (GRCm39) missense probably damaging 1.00
R5000:Frmpd1 UTSW 4 45,261,931 (GRCm39) splice site probably null
R5041:Frmpd1 UTSW 4 45,278,878 (GRCm39) missense probably damaging 1.00
R5228:Frmpd1 UTSW 4 45,284,322 (GRCm39) missense probably damaging 0.98
R5413:Frmpd1 UTSW 4 45,249,196 (GRCm39) missense probably benign 0.00
R5560:Frmpd1 UTSW 4 45,243,697 (GRCm39) missense probably damaging 1.00
R6133:Frmpd1 UTSW 4 45,284,915 (GRCm39) missense probably benign 0.01
R6158:Frmpd1 UTSW 4 45,285,401 (GRCm39) missense probably damaging 1.00
R6329:Frmpd1 UTSW 4 45,268,551 (GRCm39) missense possibly damaging 0.80
R6338:Frmpd1 UTSW 4 45,274,489 (GRCm39) missense probably benign 0.00
R6544:Frmpd1 UTSW 4 45,279,024 (GRCm39) missense probably damaging 1.00
R6728:Frmpd1 UTSW 4 45,284,664 (GRCm39) missense probably benign
R6748:Frmpd1 UTSW 4 45,274,397 (GRCm39) missense probably benign 0.08
R6798:Frmpd1 UTSW 4 45,284,850 (GRCm39) missense probably benign 0.17
R6828:Frmpd1 UTSW 4 45,275,383 (GRCm39) missense probably damaging 0.99
R7002:Frmpd1 UTSW 4 45,284,200 (GRCm39) missense probably benign
R7258:Frmpd1 UTSW 4 45,269,974 (GRCm39) missense possibly damaging 0.79
R7295:Frmpd1 UTSW 4 45,285,700 (GRCm39) missense probably damaging 1.00
R7382:Frmpd1 UTSW 4 45,278,880 (GRCm39) missense probably benign 0.00
R7423:Frmpd1 UTSW 4 45,256,948 (GRCm39) missense probably damaging 1.00
R7451:Frmpd1 UTSW 4 45,279,558 (GRCm39) missense probably benign 0.11
R7492:Frmpd1 UTSW 4 45,285,237 (GRCm39) missense possibly damaging 0.71
R7524:Frmpd1 UTSW 4 45,271,181 (GRCm39) missense probably benign 0.16
R7610:Frmpd1 UTSW 4 45,279,098 (GRCm39) missense probably damaging 1.00
R7719:Frmpd1 UTSW 4 45,284,841 (GRCm39) missense possibly damaging 0.52
R7724:Frmpd1 UTSW 4 45,229,888 (GRCm39) missense probably damaging 1.00
R7891:Frmpd1 UTSW 4 45,284,478 (GRCm39) missense probably benign 0.06
R8010:Frmpd1 UTSW 4 45,284,272 (GRCm39) missense possibly damaging 0.51
R8260:Frmpd1 UTSW 4 45,244,638 (GRCm39) missense probably damaging 0.99
R8528:Frmpd1 UTSW 4 45,285,034 (GRCm39) missense probably benign
R8794:Frmpd1 UTSW 4 45,279,632 (GRCm39) missense probably benign 0.00
R8798:Frmpd1 UTSW 4 45,285,424 (GRCm39) missense possibly damaging 0.95
R8954:Frmpd1 UTSW 4 45,284,702 (GRCm39) missense probably benign 0.02
R9058:Frmpd1 UTSW 4 45,283,948 (GRCm39) missense probably damaging 1.00
R9178:Frmpd1 UTSW 4 45,285,367 (GRCm39) missense probably damaging 1.00
R9281:Frmpd1 UTSW 4 45,284,127 (GRCm39) missense probably benign 0.11
R9408:Frmpd1 UTSW 4 45,279,182 (GRCm39) missense probably benign 0.00
R9532:Frmpd1 UTSW 4 45,278,886 (GRCm39) missense
Z1088:Frmpd1 UTSW 4 45,284,080 (GRCm39) missense possibly damaging 0.93
Z1177:Frmpd1 UTSW 4 45,275,272 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGTCCCACAAGCCCTTG -3'
(R):5'- TCTCAGGCGGTAGGCAAATG -3'

Sequencing Primer
(F):5'- AAGCCCTTGACGTTAGAGCTC -3'
(R):5'- AATGATAGGACTGTCGTCACC -3'
Posted On 2015-10-21